Wilson disease

Preferred Label : Wilson disease;

Symbol : WND;

CISMeF acronym : WD; WND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : WD; Hepatolenticular degeneration;

Description : Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, Cu transporting, beta polypeptide gene (ATP7B, 277900.0001);

Laboratory abnormalities : Low serum ceruloplasmin; High nonceruloplasmin-bound serum copper; High urinary copper; Proteinuria; Aminoaciduria; Glycosuria; Uricaciduria; Hyperphosphaturia; Hypercalciuria;

Prefixed ID : #277900;

Details

Origin ID

277900;

UMLS CUI

C0019202;

Automatic exact mappings (from CISMeF team)
- ATP7B wt Allele [NCIt concept]
- ATPase copper transporting beta [ORDO Gene]
- ATPase copper transporting beta [HGNC gene]
- SLC4A1 wt Allele [NCIt concept]
- Working diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- congenital anomaly digestive system [ICPC-2 Rubric]
- symbol withdrawn WND [HGNC gene]
Currated CISMeF NLP mapping
- Disorders of copper metabolism [ICD-10 Sub-category]
- Disorders of copper metabolism [ICD-10 Sub-category (who)]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Hepatolenticular Degeneration [NCIt concept]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [Disease (Nov.)]
- Wilson disease [DO Concept]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson disease [ORDO Disease]
- Wilson's disease [Blood Transfusion thesaurus concept]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH Descriptor]
- hepatolenticular degeneration [MeSH concept]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
DO Cross reference
- Wilson disease [DO Concept]
Genes related to phenotype
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Atypical or prolonged hepatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chondrocalcinosis [HPO term]
- Cirrhosis [HPO term]
- Coma [HPO term]
- Dementia [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Esophageal varix [HPO term]
- Glycosuria [HPO term]
- Hemolytic anemia [HPO term]
- Hepatic failure [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- High nonceruloplasmin-bound serum copper [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypoparathyroidism [HPO term]
- Joint hypermobility [HPO term]
- Kayser-Fleischer ring [HPO term]
- Mixed demyelinating and axonal polyneuropathy [HPO term]
- Nephrolithiasis [HPO term]
- Osteoarthritis [HPO term]
- Osteomalacia [HPO term]
- Osteoporosis [HPO term]
- Personality changes [HPO term]
- Polyneuropathy [HPO term]
- Poor motor coordination [HPO term]
- Proteinuria [HPO term]
- Renal tubular dysfunction [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Wilson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral pseudosclerosis (disorder) [SNOMED CT concept]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Hepatolenticular Degeneration [NCIt concept]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [ORDO Disease]
- Wilson disease [DO Concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [Disease (Nov.)]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH Descriptor]
- hepatolenticular degeneration [MeSH concept]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]

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